In conclusion, intraepidermal nerve fiber density may be more suitable than CCM for assessing peripheral nerve pathology in length dependent neuropathies.

Intraepidermal nerve fiber density correlated better than CCM measures with small and large fiber function at the foot.

CCM and skin biopsies were performed in an unselected prospective cohort of patients with a clinical suspicion of polyneuropathy.

This study compared the correlations of each of these morphometric assessments with peripheral nerve function in a mixed etiology polyneuropathy cohort.

Skin biopsies are considered the gold standard for small fiber neuropathy diagnosis, but recently corneal confocal microscopy (CCM) has been developed as an alternative.

Check out the new work from Thomas Krøigård and colleagues :. The Correlation Between Functional and Morphometric Small Fiber Assessment in Mixed Etiology Polyneuropathy. #JPNSXHighlights.

As the Nf-L levels were in the normal range for the majority of their research participants, the use of Nf-L levels as a biomarker in idiopathic polyneuropathy patients during future clinical trials to evaluate new treatments for the condition seemed to be limited.

There was no correlation to neuropathic pain associated with elevated Nf-L levels.

There was no differentiation between those with recent onset versus long-standing polyneuropathy.

In 78.1% of the samples, the Nf-L levels were in the normal range. Those with elevated Nf-L levels had more severe neuropathy, and were more likely to have reduced action potentials in both motor and sensory nerves in the leg.

Nf-L levels were quantified using an ultrasensitive digital immunoassay SiMoA® in blood plasma samples from 294 research participants with a confirmed diagnosis of idiopathic polyneuropathy.

The purpose of this research was to investigate whether Nf-L is also a promising biomarker for idiopathic peripheral neuropathy, the second most common sub-type of axonal polyneuropathy.

Neurofilament light chain (Nf-L) has been identified as a biomarker of neurodegeneration in many neuromuscular conditions, including several sub-types of polyneuropathies.

Check out the new work from Ahmet Höke and colleagues :. Neurofilament Light Chain Levels in a Large Idiopathic Peripheral Neuropathy Cohort. #JPNSXHighlights.

This study also discussed the potential underestimation of AD-CMT2K prevalence due to its mild phenotype.

A previously described deep intronic variant, a possible founder mutation in Iran, was seen again in two unrelated Iranian families.

This study reported nine GDAP1 variants, including two novel ones, expanding the known genetic spectrum of GDAP1-related CMT.

A comprehensive clinical evaluation on 11 Iranian families with GDAP1-related CMT was conducted, expanding the understanding of the clinical features of this disorder.

Mutations in the GDAP1 gene can cause a range of CMT phenotypes, including AR CMT4A, AD or AR CMT2K, and a recessive intermediate form (CMTRIA), with varying phenotypic severity.

Check out the new work from Afagh Alavi and colleagues :. GDAP1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?. #JPNSXHighlights.